New test identifies people at higher risk of glaucoma, the leading cause of irreversible blindness

by QIMR Berghofer Medical Research Institute

edited by Lisa Lock, reviewed by Andrew Zinin

Lisa Lock

Scientific Editor

Meet our editorial team
Behind our editorial process

Andrew Zinin

Chief Editor

Meet our editorial team
Behind our editorial process Editors' notes

This article has been reviewed according to Science X's editorial process and policies. Editors have highlighted the following attributes while ensuring the content's credibility:

fact-checked

peer-reviewed publication

trusted source

proofread

The GIST Add to Preferred Sources

A new genetic test developed by researchers at QIMR Berghofer and Flinders University, along with international collaborators, can identify people at up to 10 times the normal risk of developing open-angle glaucoma, the most common form of the disease and the leading cause of irreversible blindness worldwide.

The findings, published in Ophthalmology, show the test is a major improvement on earlier versions and could help doctors detect and treat glaucoma before sight is lost.

Glaucoma damages the optic nerve and usually has no symptoms in its early stages. About half of all people with glaucoma remain undiagnosed, even in countries with good access to eye care. Because lost vision cannot be restored, early detection is critical.

The test uses a polygenic risk score, which combines the effects of millions of genetic variations into a single measure of a person's inherited risk. Researchers built the new score using genetic data from more than six million people, including almost 300,000 people with glaucoma. The previous version, published in 2020, was based on about 8,000 glaucoma cases.

Lead researcher Stuart MacGregor, head of QIMR Berghofer's Statistical Genetics Laboratory, said the much larger data set had delivered a significant leap in predictive accuracy.

"In Australians of European ancestry, people in the highest 10% of genetic risk were 10 times more likely to have glaucoma than everyone else. Our earlier test identified about a fourfold increase in risk," MacGregor said.

"To our knowledge, this is the strongest genetic risk prediction reported for any common complex disease."

The study found people in the highest 10% of genetic risk developed glaucoma about 25 years earlier, on average, than those in the lowest 10%. A healthy 65-year-old of European ancestry in the highest 20% of genetic risk has an estimated 10% chance of developing glaucoma within the next decade, compared with just 0.4% for someone in the lowest 20%.

The score also helped predict disease severity. In a long-term study of people with suspected or early glaucoma, 24% of those in the highest-risk group required glaucoma surgery by age 80, compared with none in the lowest-risk group. The test also identified patients more likely to require intensified treatment and to have affected family members, and it added substantial predictive value beyond eye pressure measurements, the most commonly assessed glaucoma risk factor.

MacGregor said the test could help clinicians determine who would benefit from closer monitoring and earlier treatment, while reducing unnecessary testing for those at lower risk.

"Glaucoma is very treatable if it is caught early, but many people are diagnosed only after permanent damage has occurred. A test like this can help direct eye care resources to the people who need them most," he said.

Jamie Craig, from Flinders University, said the research highlighted the potential for more personalized glaucoma care.

"This research has opened the door to a personalized approach to glaucoma risk analysis for the population, family members of patients and those already showing signs of early-stage disease. It will allow us to get the timing of treatments right to prevent vision loss," Craig said.

The researchers tested the score across people of European, African, East Asian, South Asian and Hispanic ancestry. While it identified higher-risk groups in all populations, performance was strongest in people of European ancestry, reflecting the greater availability of large genetic data sets from those populations.

"Most of the large genetic data sets available today come from people of European ancestry. Improving accuracy for all populations is an important priority for our next phase of work," MacGregor said.

The researchers say further studies are needed to assess the cost-effectiveness of incorporating the test into targeted glaucoma screening programs.

Publication details

Ophthalmology (2026). DOI: 10.1016/j.optha.2026.10.013

Journal information: Ophthalmology

Key medical concepts

Genetic TestingPolygenic Risk Scoresglaucoma surgery

Clinical categories

OphthalmologyClinical genetics Provided by QIMR Berghofer Medical Research Institute Who's behind this story?

Lisa Lock

BA art history, MA material culture. Former museum editor, paramedic, and transplant coordinator. Editing for Science X since 2021. Full profile →

Andrew Zinin

Master's in physics with research experience. Long-time science news enthusiast. Plays key role in Science X's editorial success. Full profile →

Citation: New test identifies people at higher risk of glaucoma, the leading cause of irreversible blindness (2026, November 13) retrieved 13 November 2026 from https://medicalxpress.com/news/2026-11-people-higher-glaucoma-irreversible.html This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.